Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms.
30 avr. 2022 · Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This ...
Autres questions
What is the life expectancy of someone with Gaucher syndrome?
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Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease ...
Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly, and bruising and bleeding problems ...
12 nov. 2023 · Gaucher disease (pronounced as GO-SHEY) is an autosomal recessive inborn error of metabolism caused by mutations in the glucocerebrosidase ...
Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities ...
1 nov. 2022 · Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary ...
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase (GBA).
Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs.
Maladie de Gaucher (Gaucher's disease)
La maladie de Gaucher, aussi appelée sphingolipidose, est une maladie de surcharge lysosomale, fréquemment présente dans l'ethnie Ashkénaze, en rapport avec un déficit enzymatique en glucocérébrosidase due à une ... Wikipédia
